rs121918104

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121918104(C;C)

Make rs121918104(C;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

71825892

Gene

PSAP

is a	snp
is	mentioned by
dbSNP	rs121918104
dbSNP (classic)	rs121918104
ClinGen	rs121918104
ebi	rs121918104
HLI	rs121918104
Exac	rs121918104
Gnomad	rs121918104
Varsome	rs121918104
LitVar	rs121918104
Map	rs121918104
PheGenI	rs121918104
Biobank	rs121918104
1000 genomes	rs121918104
hgdp	rs121918104
ensembl	rs121918104
geneview	rs121918104
scholar	rs121918104
google	rs121918104
pharmgkb	rs121918104
gwascentral	rs121918104
openSNP	rs121918104
23andMe	rs121918104
SNPshot	rs121918104
SNPdbe	rs121918104
MSV3d	rs121918104
GWAS Ctlg	rs121918104

Max Magnitude

0

OMIM	176801
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918104(C;C)
Alt	rs121918104(C;C)
Reference	Rs121918104(G;G)
Significance	Pathogenic
Disease	Sphingolipid activator protein 1 deficiency
Variation	info
Gene	PSAP
CLNDBN	Sphingolipid activator protein 1 deficiency
Reversed	1
HGVS	NC_000010.10:g.73585649C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014291.24,